Associated Papers
Disease-related p63 DBD mutations impair DNA binding by distinct mechanisms and varying degree.
Osterburg C et al.
Cell Death & Disease, 2023
37072394 (PubMed )
Supplement: 41419_2023_5796_MOESM10_ESM.xlsx › p63_mutations
Isoform-Specific Roles of Mutant p63 in Human Diseases.
Osterburg C et al.
Cancers, 2021
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › COSMIC
Analysis of large phenotypic variability of EEC and SHFM4 syndromes caused by K193E mutation of the TP63 gene.
Wei J et al.
Plos One, 2012
A newborn with overlapping features of AEC and EEC syndromes.
Celik TH et al.
American Journal of Medical Genetics. Part A, 2011
Structures of p63 DNA binding domain in complexes with half-site and with spacer-containing full response elements.
Chen C et al.
Proceedings of the National Academy of Sciences of the United States of America, 2011
Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: five new mutations in the DNA-binding domain of the TP63 gene and genotype-phenotype correlation.
Clements SE et al.
The British Journal of Dermatology, 2010
Pattern of p63 mutations and their phenotypes--update.
Rinne T et al.
American Journal of Medical Genetics. Part A, 2006
Pathogenesis of split-hand/split-foot malformation.
Duijf PH et al.
Human Molecular Genetics, 2003
P63 gene mutations and human developmental syndromes.
Brunner HG et al.
American Journal of Medical Genetics, 2002
p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.
van Bokhoven H et al.
American Journal of Human Genetics, 2001
A case of ankyloblepharon, ectodermal dysplasia, and cleft lip/palate syndrome with ectrodactyly: are the p63 syndromes distinct after all?
Chiu YE et al.
Pediatric Dermatology, 0
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